Newborn Genome Sequencing- Would You Want To Know If You Could?

10.25.2012 // 20 comments

The day Leyna was born, just hours after she was placed in our arms, Scott’s 32-year-old cousin died from complications related to cystic fibrosis. Andy was a fighter, referred to as Superman by the family. He’d endured transplants, treatments, and multiple drugs to beat down the beast that was the disease he had since birth, a disease that is genetic. As far as cystic fibrosis is concerned, he lived a long life, but when you remove the disease from the equation, it was entirely too short.

Scott and I have never been tested to see if we carry the gene that could put our children at risk for CF, but both of the children have been tested at birth for it as part of their newborn screening done in the hospital. You can read more about it here. I’ve never second guessed the importance of having that done. If our baby has CF, we would need to know as soon as possible.

It’s also helped ease my mind. There was a point when Kendall got sick and displayed some symptoms that are related to CF, which really made my anxiety rise. After I remembered he’d been tested early on for that, and after talking with his pediatrician, I felt much more at ease. Turns out he was just having some typical toddler digestive issues.

The Newborn Screening only screens for about 50 health conditions, but advances in technology are making it easier for parents to find out much, much more about their baby’s genetic makeup at birth.

Bonnie Rochman is publishing a 5 part series on Time.com all about the pros and cons of so much information made available to new parents, and I find it fascinating.

Genetic tests have been around for years, but in 2003 scientists took the field a step further, announcing the first complete mapping of a human genome — an entire genetic code. Sequencing, or “reading,” a person’s genome is one of the newest, most controversial tools in the medical arsenal because of the mother lode of information it contains about future disease risk. Genetic markers for heart disease or cancer may spur consumers toward healthier behavior. But when it comes to conditions such as Alzheimer’s and Parkinson’s that can’t be prevented, many experts are divided on whether knowing is helpful or harmful. –“Test Your DNA For Diseases – No Doctor Required,” Time.com

Honestly, I’m torn. Would this be something I’d want to know? How would this benefit us, specifically my children? Maybe even more important of a question- how would this hurt us?

Sometimes just because a person carries a gene for something, doesn’t mean they will be affected by it. That said, environmental factors plus that gene can make it more likely they will. So then I could at least try to control the environmental factors, right?

But then I just picture me putting my baby in a bubble and taking xanax for the rest of my life. I can’t imagine how this kind of information could affect postpartum mental health.

On the other hand, though, if I can know ahead of time that my kid will likely develop a disease, I can educate myself. I can be proactive. Is it irresponsible not to find out if you have the information available to you?

I don’t have answers to any of those questions. Just more questions.

How do you feel? If at birth you could have your child’s genetic makeup tested for everything under the sun, would you? And then what would you do with that? What if you found out they carry the gene for something that can’t be cured or prevented?

Maybe an even bigger question- when and how do you pass that information on to your child?

molly-I worked for the Cystic Fibrosis Foundation for four years. It is a terrible, ugly and unfair disease. I went to many funerals during my time there. I guess I wouldn’t be opposed to the testing. If it would mean more knowledge and fast-acting care that they needed.ReplyCancel

Jill-I had no idea that’s where you worked, Molly. It’s unfortunate we share that connection.ReplyCancel

Crys Wiltshire-I think the newborn screening can be somewhat beneficial for arming parents with knowledge, but it is a very delicate balance. I know I would struggle with not letting any discoveries fester in my mind. Now I can say for certain that I wouldn’t want to have the pre-screening done during pregnancy. That is a personal choice. My husband and I discussed it and agreed that knowing any chances of illnesses ahead of time would never sway any of our decisions, so we opted out of that with Lilly.ReplyCancel

Amanda-I’ve done a lot of thinking about this. My son has a uncommon genetic disorder that has very little impact on his day to day life. The one major issue is his increased risk of developing a number of cancers. His risk decreases to the norm when he hits 8 years old. All of the cancers he is at risk of developing are highly treatable with if caught early. So he gets quarterly ultrasounds and blood work to make sure there are no signs of tumors. In cases like this, where you can get ahead of the curve and treatment would make a huge difference in quality and length of life I would want to know 100%. However what I would not want to know are the diseases or disorders that are untreatable or that do not have early warning signs. In other words if knowing could increase my kids chances of beating something or having a better quality of life then heck yeah – let’s get a move on! But if that’s not the case the increased anxiety and the feeling of waiting for the other shoe to drop is just not worth it!ReplyCancel

Miranda (Not Super...Just Mom)-I have a cousin who was born with CF. Prior to his birth, no one on either of his parent’s side of the family had ever been born with CF. When I was pregnant with Joshua, I had myself tested for CF because we hadn’t yet determined whether my cousin’s recessive gene was maternal (in which case it could affect me) or paternal. Thankfully, I’m not a carrier. But my cousin and his wife have opted to have no more biological children because of the reality that they will likely outlive their second son.

I believe two things. The first is that some things are inevitable and nothing I do will change that. The second is that knowledge is power. If knowing about a future illness that I cannot prevent allows me to add more quality to my children’s life, then yes, I think I’d want to know.ReplyCancel

Erin B. -I had cancer as a child, and while they say the type I had is not genetic, I am terrified that one of my children are going to develop it. I am torn as to whether or not I would get the test. My husband would probably be against it though. Having kids (and worrying about them) is terrifying business!ReplyCancel

Chelsey-That would be hard. I’d love to know as much as I can, but I’d also like to not worry about every little thing in my child’s life. So torn. BUT, then you could adjust how you raise/teach them to prepare? I don’t know. Nevermind.ReplyCancel

Alena-A good friend of mine is facing going through genetic testing for her son because of a condition they are still not sure of. It makes me incredibly grateful in so many ways that this is available, to give her the ability to hopefully get some much needed answers and possibly a way to help her son have a good healthy happy life.

That said, I worry about the use of a genetic testing wide spread. And how it could be used to alienate people, or be some sort of hierarchy of health. How health care could be divided up and almost used to control certain genetic issues by forcing things on to people or children (by fear or coercion or by playing into our parental need to protect our kids). I do not trust the medical community enough with information like that. And I look at the wealthy of the world who may pour money in to pharma companies or other medial services as a way to control certain genetic markers. IDK that maybe makes me sound crazy….but I think that information like that could be dangerous. And I don’t trust anyone enough to know that wide spread testing could give data in ways that could be used against society as a whole.ReplyCancel

QoB -I think, ethically, we should only screen for things we can actually have an impact on, and that would change how a child would be medically treated: like, as you mention, cystic fibrosis. (I’m Irish, we have the highest prevalence rates of CF worldwide and only introduced newborn screening in 2011 – argh!)

There’s no point screening a child for a medical condition that we can’t do anything about or whose development we don’t know enough about yet (and I’m including multi-factor things like heart disease, Alzheimer’s, depression, etc. etc. in there): it would only make the parents paranoid and label the child.

Of course if a child shows symptoms that need explanation, then a genetic test could absolutely be the best thing, but that’s different from screening.ReplyCancel

Joanna @ Growing Up in Oz-Without a doubt no. Many people might think I’m crazy for saying. As someone who has had cancer at 21 and a child who is still dealing with congenital hip issues, you would think I’d be all for it but I have a firm understanding of my mental health and what that would do to it.

It would inevitably send me spiraling out of control. The mere unknowns of impending follow-up appointments sends me into fits of hysteria and has my anxiety come crashing down all around me.

If I was told 100 percent without a doubt that screening for something would mean I could correct it or cure it ahead of time? Sure. But just knowing? I couldn’t do it. Although I totally could see why people would.ReplyCancel

Joanna @ Growing Up in Oz-I should note, it’s the same reason we opted out of the NT screening during pregnancies. I know a lot of people’s reasoning was so they could prepare themselves and I understand that but to us, it just wasn’t something that we felt would make us any more prepared to raise a child with down syndrome if it ever came up.ReplyCancel

KyFireWife-For us it comes down to whether or not the answer would determine a difference in care. For example, we forewent any in untero screening, because our Ob advised us that the current screenings do not check for anything that would change the care I or my baby received, unless we would choose to abort the baby. Since that was not a consideration for us, we saw no reason to test. Same with other testing. I know I have a strong family history of breast cancer, But I know that it’s not genes alone. So while I’m cautious (mammograms started before age 30, routine self exames, etc, etc, etc), I have chosen not to have the genetic testing done. Knowing that I carry the gene doesn’t necessitate that I WILL develop breast cancer. All knowing will do, is increase my anxiety level, and decrease my ability to enjoy life as it is. Now, if there were genetic testing available for something that we were at risk for, that would definitively sa whether or not we would get the condition, AND would enable us to seek life-improving early treatment… then I’d probably do it. But otherwise, nah…ReplyCancel

Sheri Prush -Wow. I really don’t know what I would do. My 2nd child has some delays that sometimes make days more challenging then other 2 year olds days. That being said I feel like she is our gift from God and He gave us the responsibility to give her the best life possible, just like her other 2 sisters. However, maybe a heads up would’ve prepared us better to get things for her that she needs, or at least be proactive in finding a community of help. Before we had Kylie we never wanted to know any possible issues that might come our way. Its just borrowing trouble. With our 3 child we did have some blood work done while I was pregnant and it gave me great ease throughout the pregnancy. I feel like I’m rambling, mostly because after 3 kids I’m still very torn.ReplyCancel

Jessica Slater Sutherland -I’d want to know, even if it was something incurable, if for no other reason than it would light a fire under my ass to work and fundraise to find a cure. Maybe there’d be no way to fix it, but I’d still want to feel like I had the power to try *something*. To a certain extent, it almost seems like the powerlessness we feel is the hardest part about watching our children suffer. At least knowing and working towards some cure would give me the feeling of a modicum of control over the situation. At least I could say I tried to do something (which isn’t to imply that parents currently don’t, but simply that sometimes they can’t).ReplyCancel

Amy Diggle Moran -I’d be concerned about the impacts on insurability- life, health, etc. It seems like you’d be owning up to “pre-existing conditions”. It’s a shame we even have to think that way, but for now it’s a reality.ReplyCancel

“But there’s a world of difference ,in what to do with genetic information, between prenatal and postnatal. Prenatal testing reveals genotypes before parents can see phenotypes (the results); postnatal testing attempts to assign genotypes that might explain phenotypes.”ReplyCancel

Jennifer @ Also Known As the Wife-I think you and I are similar in a lot of ways when it comes to anxiety. I know if there wasn’t a 100% certainty that my child would develop a condition and disease I wouldn’t want to know. It would be a black cloud hanging just above the horizon that I would worry and obsess over every single day.

If I could choose to have the doctor report absolute certainties and leave the maybes unknown I’d consider the sequencing.ReplyCancel

Jana from Germany -Have you seen the movie “GATTACA”? The things happening in this movie are things I am affraid of. But testing for illnesses is important and I hope they find cures for lots of them.ReplyCancel

Kelly -Newborn screening is one thing, sequencing an entire genome is quite another. I’m all for having as much information as I can about a disease whose path I might be able to control with interventions or therapies or medicines. But if I’m home with a perfectly healthy looking newborn and am suddenly alerted to evidence that points to “potential” problems? No thank you. That serves me and my family no good whatsoever. Parenting is anxiety-inducing enough without adding even more elements that we can’t control.

The ultimate question for me is: would I or could I behave any differently as a parent if I knew the results of such an exhaustive sequencing? I can only think the answer would be no. Why torture myself with information that I can do nothing about?

Sequencing is too new, too experimental for even many genetic experts to know what to do with so much information. I think gene sequencing does patients a disservice if the medical community isn’t prepared to educate patients about what it all means. Giving me information about a potential problem, but not giving me enough information about that I may do about it sounds absolutely wrenching. I think the article about the company that is looking to provide genetic testing directly to consumers — bypassing physicians completely — is irresponsible.

And honestly, if the results pointed to something fatal with no known cure or treatment, I’d prefer to enjoy my time with my baby while I had it, rather than worrying about something I had zero control over.ReplyCancel